Neurobehavioral Phenotype of Children With Congenital Myotonic Dystrophy.

Background And Objectives: To describe the neurobehavioral phenotype of congenital myotonic dystrophy. Congenital myotonic dystrophy (CDM) is the most severe form of myotonic dystrophy, characterized by symptom presentation at birth and later, cognitive impairment, autistic features, and disordered sleep.

Methods: The neurobehavioral phenotype was assessed in this cross-sectional study by a neuropsychological battery consisting of the Wechsler Preschool and Primary Scale of Intelligence, Third Edition, Weschler Intelligence Scale for Children, Fourth Edition, Vineland Adaptive Behavior Scale, Second Edition (Vineland-II), Behavior Rating Inventory of Executive Function including preschool and teacher reports, Autism Spectrum Screening Questionnaire, Social Communication Scale, and Repetitive Behavior Scale-Revised.

Home-based fecal calprotectin utilization in a general pediatric gastroenterology clinic.

Objective: Remote investigation and monitoring have gained importance in ambulatory practice. A home-based fecal calprotectin (FC) test has been developed where the sample is processed and analyzed at home through a smartphone application. We aimed to assess the use of standard ELISA (sFC) versus home-based (hFC) FC testing in a general pediatric gastroenterology clinic.

Fluorine-18-labelled Prostate-specific Membrane Antigen Positron Emission Tomography/Computed Tomography or Magnetic Resonance Imaging to Diagnose and Localise Prostate Cancer. A Prospective Single-arm Paired Comparison (PEDAL).

Background And Objective: Multiparametric magnetic resonance imaging (mpMRI) of the prostate is used for prostate cancer diagnosis. However, mpMRI has lower sensitivity for small tumours. Prostate-specific membrane antigen positron emission tomography/computed tomography (PSMA-PET/CT) offers increased sensitivity over conventional imaging.

Positive Schemas, Coping, and Quality of Life in Pediatric Recurrent Abdominal Pain.

Pediatric recurrent abdominal pain is commonly associated with negative impacts on quality of life (QOL). Positive schemas (core beliefs about the self with subthemes of self-efficacy, optimism, trust, success, and worthiness) are a resilience factor that has not yet been examined within a pediatric recurrent pain context. This cross-sectional study examined (a) associations between positive schemas, pain coping, and youth QOL, and (b) exploratory analyses to investigate whether specific positive schema subthemes predicted QOL outcomes in youth with recurrent abdominal pain.

Inflammatory Bowel Disease Among Canadian Children: Comparison Between Children of Non-European Descent and Children of European Descent.

Background: Inflammatory bowel disease (IBD) phenotypes may differ between countries and ancestral groups. The study aim was to examine ancestry and subtype variations of children newly diagnosed with IBD.

Methods: Children newly diagnosed with IBD enrolled into the Canadian Children Inflammatory Bowel Disease Network inception cohort study were categorized into 8 ancestral groups.

Health-related quality of life in youth with abdominal pain: An examination of optimism and pain self-efficacy.

Objectives: Abdominal pain adversely impacts children with functional gastrointestinal disorders (FGIDs) or organic gastrointestinal disorders (OGIDs); findings are inconsistent regarding diagnosis and health-related quality of life (HRQoL). This study utilizes a positive psychology framework to understand the experience of youth with abdominal pain (i.e.

Brief video enhances teacher trainees' knowledge of epilepsy.

Objective: Relative to the general population, children with epilepsy (CWE) demonstrate difficulties in aspects of cognition and mental health. Previous studies have found that teachers have poor knowledge about epilepsy, which may lead to inadequate management of CWE's comorbidities and seizures, potentially impacting CWE's school performance, social development, and safety. The current study aimed to evaluate whether a brief training program improves teachers' epilepsy knowledge.

A live-online mindfulness-based intervention for children living with epilepsy and their families: protocol for a randomized controlled trial of Making Mindfulness Matter©.

Background: Epilepsy extends far beyond seizures; up to 80% of children with epilepsy (CWE) may have comorbid cognitive or mental health problems, and up to 50% of parents of CWE are at risk for major depression. Past research has also shown that family environment has a greater influence on children's and parents' health-related quality of life (HRQOL) and mental health than epilepsy-related factors. There is a pressing need for low-cost, innovative interventions to improve HRQOL and mental health for CWE and their parents.

Screening and Treatment Outcomes in Adults and Children With Type 1 Diabetes and Asymptomatic Celiac Disease: The CD-DIET Study.

Objective: To describe celiac disease (CD) screening rates and glycemic outcomes of a gluten-free diet (GFD) in patients with type 1 diabetes who are asymptomatic for CD.

Research Design And Methods: Asymptomatic patients (8-45 years) were screened for CD. Biopsy-confirmed CD participants were randomized to GFD or gluten-containing diet (GCD) to assess changes in HbA and continuous glucose monitoring over 12 months.

Carnitine Palmitoyl Transferase Deficiency in a University Immunology Practice.

Purpose: This report describes the clinical manifestations of 35 patients sent to a University Immunology clinic with a diagnosis of fatigue and exercise intolerance who were identified to have low carnitine palmitoyl transferase activity on muscle biopsies.

Recent Findings: All of the patients presented with fatigue and exercise intolerance and many had been diagnosed with fibromyalgia. Their symptoms responded to treatment of the metabolic disease.

Phenotypic Variation in Paediatric Inflammatory Bowel Disease by Age: A Multicentre Prospective Inception Cohort Study of the Canadian Children IBD Network.

Background And Aims: Incidence of paediatric inflammatory bowel disease [IBD] in Canada is among the highest worldwide, and age of onset may be decreasing. In a multicentre nationwide inception cohort study, we examined variation in phenotype of IBD throughout the paediatric age spectrum.

Methods: Children aged ≥2 years [y] and <17y [A1 age at diagnosis], with new onset IBD, were systematically evaluated at sites of the Canadian Children IBD Network.

Allied Health Professional Support in Pediatric Inflammatory Bowel Disease: A Survey from the Canadian Children Inflammatory Bowel Disease Network-A Joint Partnership of CIHR and the CH.I.L.D. Foundation.

Objectives: The current number of healthcare providers (HCP) caring for children with inflammatory bowel disease (IBD) across Canadian tertiary-care centres is underinvestigated. The aim of this survey was to assess the number of healthcare providers (HCP) in ambulatory pediatric IBD care across Canadian tertiary-care centres.

Methods: Using a self-administered questionnaire, we examined available resources in academic pediatric centres within the Canadian Children IBD Network.

Enteric-coated budesonide for the induction and maintenance of remission of Crohn's disease in children.

Objective: These studies evaluated the safety and efficacy of enteric-coated budesonide for the induction and maintenance of remission of mild-to-moderate Crohn's disease (CD) in children.

Methods: The consecutive, multicenter, open-label, non-comparative studies enrolled patients aged 6-17 years. In the induction study, patients with active CD of the ileum and/or ascending colon received budesonide 9 mg or 6 mg once daily for 8 weeks; in the maintenance study, patients in remission received budesonide 6 mg once daily for 12 weeks.

Idiosyncratic drug reactions and membranous glomerulopathy.

An infant boy with steroid-resistant nephrotic syndrome (idiopathic membranous glomerulonephropathy) achieved remission with ciclosporin but developed eosinophilia and high IgE levels (max 19 000  iU/mL). Conversion to tacrolimus resulted in chronic diarrhoea (eosinophilic gastroenteritis), muscle weakness, polyserositis and failure-to-thrive. In contrast, a trial without tacrolimus resulted in a ciclosporin-responsive relapse, therapy-resistant focal seizures with generalised spikes, worsening muscle weakness and diarrhoea.

Rapid fecal calprotectin testing to assess for endoscopic disease activity in inflammatory bowel disease: A diagnostic cohort study.

Background And Aim: With increasing numbers of patients diagnosed with inflammatory bowel disease (IBD), it is important to identify noninvasive methods of detecting disease activity. The aim of this study is to examine the diagnostic accuracy of fecal rapid calprotectin (FC) testing in the detection of endoscopically active IBD.

Patients And Methods: All consecutive patients presenting to outpatient clinics with lower gastrointestinal symptoms were prospectively recruited.

Minimum mycophenolic acid levels are associated with donor-specific antibody formation.

Although de novo DSA are associated with inferior graft survival, there are no effective strategies to prevent their formation. Underexposure to MPA (prodrug: MMF) also contributes to rejection rates early after transplantation, but the effect of this phenomenon on the formation of DSA long-term post-transplantation is unknown. Data are expressed as mean (standard deviation).

Incidence and Characteristics of Autoimmune Hepatitis.

Background And Objectives: Autoimmune hepatitis (AIH) is a progressive inflammatory liver disease of unknown etiology, with limited population-based estimates of pediatric incidence. We reported the incidence of pediatric AIH in Canada and described its clinical characteristics.

Methods: We conducted a retrospective cohort study of patients aged <18 years diagnosed with AIH between 2000-2009 at all pediatric centers in Canada.

The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) protocol: a randomised controlled study to evaluate treatment of asymptomatic coeliac disease in type 1 diabetes.

Introduction: Coeliac disease (CD) is an autoimmune condition characterised by gluten-induced intestinal inflammation, and observed at a 5-10 fold greater prevalence in type 1 diabetes. While universal screening for CD in patients with diabetes is frequently advocated, objective data is limited as to benefits on diabetes control, bone health or quality of life related to the adoption of a gluten-free diet (GFD) in the large proportion of patients with diabetes with asymptomatic CD. The Celiac Disease and Diabetes-Dietary Intervention and Evaluation Trial (CD-DIET) study is a multicenter, randomised controlled trial to evaluate the efficacy and safety of a GFD in patients with type 1 diabetes with asymptomatic CD.

A two-center comparative study of gastric pull-up and jejunal interposition for long gap esophageal atresia.

Purpose: When restoration of the anatomical continuity in case of long gap esophageal atresia (LGEA) is not feasible, esophageal replacement surgery becomes mandatory. The aim of this paper is to critically compare the experience of two tertiary referral centers in The Netherlands performing either gastric pull-up (GPU) or jejunal interposition (JI).

Methods: Retrospective chart review of all the patients with LGEA who underwent GPU in the University Medical Center Groningen and JI in the University Medical Center Utrecht.

Optimizing working space in laparoscopy: CT measurement of the influence of small body size in a porcine model.

Introduction: In our continuing research into the determinants of laparoscopic working space, the influence of small body size was investigated.

Methods: In eight 6-kg pigs, the effects of intraabdominal CO2 pneumoperitoneum pressure (IAP), prestretching of the abdominal wall, and neuromuscular blockade (NMB) on laparoscopic working space volume and distances were studied. Computed tomography was used to measure working space during two stepwise abdominal insufflation-runs up to an IAP of 15mm Hg.

Optimizing working space in laparoscopy: CT-measurement of the effect of neuromuscular blockade and its reversal in a porcine model.

Objective: The objective of this paper was to determine the effect of neuromuscular blockade (NMB) on working space in a porcine laparoscopy model.

Background: Conflicting results on the effect of NMB on laparoscopic working space are found in literature. Almost all studies are limited by absence of objective assessment of working space or use surrogate outcomes.